In the ethnic-pooled breast cancer analyses (2,984 cases and 7,545 controls), the most significant predicted protein-altering variant was a rare SP variant rs145889899 at the splice donor site in the second intron of the gene LDLRAD1 (OR = 3.74, p = 2.5×10−7), which was almost exclusively seen in African Americans, this variant was statistically significant at our exome-wide level (nominal p<3.9×10−7, see Methods). The gene discussed is LDLRAD1; the disease is breast cancer.